Genetic analysis of a case of Gitelman syndrome.
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- Yamashiki Junko
- Department of Endocrinology, Aomori Central Hospital
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- Terui Ken
- Department of Endocrinology, Aomori Central Hospital
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- Hirai Yuichi
- Department of Endocrinology, Aomori Central Hospital
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- Hasegawa Noriyuki
- Department of Endocrinology, Aomori Central Hospital
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- Tamura Michiko
- Department of Endocrinology, Aomori Central Hospital
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- Ishiguro Atsushi
- Shichinohe Public Hospital
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- Suda Toshihiro
- The Third Depertment of Internal Medicine Hirosaki University School of Medicine
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- Yasujima Minoru
- Department of Laboratory Medicine Hirosaki University School of Medicine
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- Shoji Masaru
- Department of Laboratory Medicine Hirosaki University School of Medicine
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- Tsutaya Shoji
- Department of Laboratory Medicine Hirosaki University School of Medicine
Bibliographic Information
- Other Title
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- 遺伝子解析が診断に有用だったＧｉｔｅｌｍａｎ症候群の１例
- コンゲツ ノ ショウレイ イデンシ カイセキ ガ シンダン ニ ユウヨウ ダッタ Gitelman ショウコウグン ノ 1レイ
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Description
症例は30歳,女性. 2000年12月,腹痛のため近医で検査を受けたところ,低K血症が判明し当科紹介となる.低Mg血症,尿中Ca及び尿中prostaglandin E2 (PGE2)正常という結果のため, Gitelman症候群とBartter症候群との鑑別診断に苦慮した.サイアザイド感受性Na-Cl共輸送体遺伝子(TSC遺伝子)の解析を行ったところ,エクソン16にヘテロ接合体を認めGitelman症候群と確定することができた.
Journal
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- Nihon Naika Gakkai Zasshi
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Nihon Naika Gakkai Zasshi 91 (12), 3503-3506, 2002
The Japanese Society of Internal Medicine
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Details 詳細情報について
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- CRID
- 1390001206442253568
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- NII Article ID
- 10010567616
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- NII Book ID
- AN00195836
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- COI
- 1:STN:280:DC%2BD3s7ktFagsw%3D%3D
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- ISSN
- 18832083
- 00215384
- http://id.crossref.org/issn/00215384
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- NDL BIB ID
- 025079582
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- PubMed
- 12655696
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- Text Lang
- ja
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- Data Source
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- JaLC
- NDL Search
- Crossref
- PubMed
- CiNii Articles
- OpenAIRE
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- Abstract License Flag
- Disallowed
